Canonical Allele Identifier: CA346473143

Gene: ALK

Linked Data

• dbSNP Id: rs1034835558
• gnomAD v2: 2-29443675-C-G
• MyVariant Identifiers: chr2:g.29443675C>G (hg19) ; chr2:g.29220809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220809C>G , CM000664.2:g.29220809C>G	GRCh38
NC_000002.11:g.29443675C>G , CM000664.1:g.29443675C>G	GRCh37
NC_000002.10:g.29297179C>G	NCBI36
NG_009445.1:g.705758G>C , LRG_488:g.705758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3542G>C MANE Select	ENSP00000373700.3:p.Arg1181Pro
ENST00000431873.6:c.769G>C
ENST00000638605.1:n.419G>C
ENST00000642122.1:c.338G>C	ENSP00000493203.1:p.Arg113Pro
ENST00000389048.7:c.3542G>C	ENSP00000373700.3:p.Arg1181Pro
ENST00000431873.5:c.422G>C	ENSP00000414027.2:p.Arg141Pro
ENST00000618119.4:c.2411G>C	ENSP00000482733.1:p.Arg804Pro
NM_004304.4:c.3542G>C	NP_004295.2:p.Arg1181Pro
NM_001353765.1:c.338G>C	NP_001340694.1:p.Arg113Pro
XM_024452778.1:c.695G>C	XP_024308546.1:p.Arg232Pro
XM_024452779.1:c.338G>C	XP_024308547.1:p.Arg113Pro
NM_004304.5:c.3542G>C MANE Select	NP_004295.2:p.Arg1181Pro
NM_001353765.2:c.338G>C	NP_001340694.1:p.Arg113Pro